SCA (SPINOCEREBELLAR ATAXIA) PROFILE: ANY 4 MARKERS

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SPINOCEREBELLAR ATAXIA (SCA) ARE AUTOSOMAL DOMINANT CEREBELLAR ATAXIAS OF VARIOUS TYPES RANGING FROM 1 TO 40. SCA1, 2, 3, 6, 7 & 17 ARE CAUSED BY CAG TRIPLET REPEAT EXPANSIONS IN DIFFERENT GENES. SCA8 IS DUE TO AN UNTRANSLATED CTG REPEAT EXPANSION; SCA12 IS LINKED TO AN UNTRANSLATED CAG REPEAT; SCA10 IS CAUSED BY AN UNTRANSLATED PENTANUCLEOTIDE REPEAT. THE CLINICAL PHENOTYPES OF SCAS OVERLAP, HENCE GENOTYPE HAS BECOME THE GOLD STANDARD FOR DIAGNOSIS AND CLASSIFICATION.

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4 ML (2 ML MIN.) WHOLE BLOOD IN 1 LAVENDER TOP (EDTA) TUBE. SHIP REFRIGERATED. DO NOT FREEZE. DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.

PCR, FRAGMENT ANALYSIS

REPORT ON 15TH DAY EVENING 7PM

DULY FILLED GENOMICS CLINICAL INFORMATION REQUISITION FORM IS MANDATORY.

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